Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems. Familial mutations of FBN1 have been studied and identified in Marfan syndrome, but the congenital variant is often due to de novo mutations, limiting the diagnostic capabilities of genetic screening. Ultrasound is ess...

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in couns...

Congenital temporomandibular joint (TMJ) diseases are very rare disorders and are usually diagnosed in childhood. Developmental disorders of the TMJ such as hypoplasia, hyperplasia, and aplasia of the TMJ compartments are characterized by TMJ dysfunction. In childhood, these patients experience recurrent dislocation, pain, and malocclusion. We present the case of a 25-week fetus with unilateral...

C is characterized as the early closure of the calvarial sutures.1 The classification of skull malformations in craniosynostosis is based on the sutures involved.1 Craniosynostosis involves approximately one infant in 2000 live births. More than 150 different types of craniosynostosis have been described and most isolated cases of craniosynostosis have multifactorial or sporadic inheritance,2 a...

Fetal bowel dilatation is an indirect sonographic sign of mechanical or functional bowel obstruction. The etiology of fetal bowel dilatation is a difficult prenatal diagnosis since ultrasound has limited accuracy for bowel evaluation. The authors describe a case of fetal bowel dilatation diagnosed in the third trimester.

The vast majority of cerebral vascular malformations reported in the antenatal literature are aneurysmal malformations of the vein of Galen. Other types of intracranial vascular malformations are exceptional in fetuses. The authors present a case of prenatal diagnosis of intracranial pial arteriovenous fistula, not involving the vein of Galen and not showing abnormal intracranial anatomic featu...

Received August 5, 2002, from Sonoscan Ultrasonic Scan Centre (S.B.V.) and private practice, pediatric surgery (V.R.R.), Coimbatore, India; and private practice, radiology (S.K.M.), and Kumarakriba Clinic (K.M.), Pollachi, India. Manuscript accepted for publication August 7, 2002. Address correspondence and reprint requests to S. Boopathy Vijayaraghavan, MD, DMRD, 16 B Venkatachalam Rd, R. S. P...

To date, the prenatal diagnosis of cerebellar hemorrhage has been limited to isolated case reports, which have demonstrated either a hyperechoic cerebellar hemisphere or a hyperechoic mass within the cerebellum in near-term fetuses. We demonstrate the ultrasonographic findings of intracerebellar hemorrhagic infarction in a fetus at approximately 21 weeks' gestation. In contrast to previous case...

Intestinal dilatation and hyperechogenic bowel, some typical ultrasonographic features of anorectal malformation, were found in the 21st week of a singleton pregnancy. These findings were associated with unilateral renal agenesis and a single umbilical artery. All prenatally diagnosed anomalies were confirmed postpartum. Development of the sonographic appearance of the anorectal malformation, p...

Posterior meningocele is an uncommon form of spina bifida. We present a case of unique posterior meningocele diagnosed at the early second trimester anatomical scan using 2D and 3D ultrasound. The sonographic appearance resembled "lasso". The prenatal follow-up was uneventful, with no demonstration of tethered cord. Clinical, neurological and radiological examinations following delivery and at ...